Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing

The Annals of Otology, Rhinology, and Laryngology
Maiko MiyagawaShin-Ichi Usami

Abstract

ACTG1 has been reported to be a causative gene for autosomal dominant sensorineural hearing loss, DFNA20/26. In this study we sought to clarify the detailed mutational spectrum, clinical features, and genotype-phenotype correlations. Massively parallel DNA sequencing (MPS) of 63 target candidate genes was used to screen 1120 Japanese hearing loss patients. MPS screening successfully identified 4 ACTG1 mutations in 5 families. The majority of patients showed high frequency-involved progressive hearing loss, with the age of onset mostly in the first or second decade. One patient received electric acoustic stimulation (EAS), which showed a good outcome. Target exon-sequencing using MPS was proven to be a powerful new clinical diagnostic tool for the identification of rare causative genes such as ACTG1. The present clinical findings not only confirmed those previous reports but also provided important new clinical information.

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Citations

Jun 1, 2016·American Journal of Medical Genetics. Part a·Nataliya Di DonatoWilliam B Dobyns
Nov 3, 2016·Current Opinion in Pediatrics·Christina M Sloan-Heggen, Richard J H Smith
Feb 7, 2020·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Shin-Ichi UsamiHidekane Yoshimura
Feb 29, 2020·Scientific Reports·Jun ShinagawaShin-Ichi Usami
Dec 4, 2020·Nihon Ronen Igakkai zasshi. Japanese journal of geriatrics
Apr 23, 2021·Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology·Eric NisenbaumXue Zhong Liu

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Methods Mentioned

BETA
cochlear implants

Software Mentioned

Torrent Mapping Alignment Program
Sorting Intolerant Tolerant SIFT
LRT
Torrent Variant Caller
ANNOVAR
MutationTaster
GERP
Polymorphism Phenotyping ( PolyPhen2
PhyloP

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